Results 31 to 40 of about 52,464 (357)

AAV gene therapy vectors in the TMJ

open access: yesClinical and Experimental Dental Research, Volume 8, Issue 6, Page 1561-1566, December 2022., 2022
Abstract Objectives The goal of this project was to evaluate the use of two adeno‐associated viral vector serotypes, adeno‐associated viral vectors (AAV)‐2 and AAV‐6, approved for and used for gene therapy in humans, for the delivery of therapeutic genes to the temporomandibular joint (TMJ) and the attendant sensory nerves.
Sabine M. Brouxhon   +2 more
wiley   +1 more source

Exploiting the full power of temporal gene expression profiling through a new statistical test: Application to the analysis of muscular dystrophy data [PDF]

open access: yes, 2006
Background: The identification of biologically interesting genes in a temporal expression profiling dataset is challenging and complicated by high levels of experimental noise.
de Meijer, EJ   +4 more
core   +2 more sources

Redox Homeostasis in Muscular Dystrophies

open access: yesCells, 2021
In recent years, growing evidence has suggested a prominent role of oxidative stress in the pathophysiology of several early- and adult-onset muscle disorders, although effective antioxidant treatments are still lacking.
Nicola Mosca   +6 more
doaj   +1 more source

Limb-Girdle Muscular Dystrophies

open access: yesPediatric Neurology Briefs, 2003
The phenotype in limb-girdle muscular dystrophy (LGMD) type 21 was defined by mutation analysis, protein studies, and respiratory and cardiac involvement studied in 16 patients from 14 families with fukutin-related protein (FKRP) gene mutations and LGMD,
J Gordon Millichap
doaj   +1 more source

Artificial restoration of the linkage between laminin and dystroglycan ameliorates the disease progression of MDC1A muscular dystrophy at all stages [PDF]

open access: yes, 2005
Laminin-α2 deficient congenital muscular dystrophy, classified as MDC1A, is a severe progressive muscle-wasting disease that leads to death in early childhood.
Meinen, Sarina
core   +1 more source

Anaesthetic Management in Duchenne Muscular Dystrophy Patient with TIVA Using Combination of Propofol and Dexmedetomidine Complimented with USG Guided ESPB Block- A Case Report

open access: yesArchives of Anesthesia and Critical Care, 2022
Muscular dystrophies are a group of genetic diseases which cause progressive degeneration of skeletal muscle along with weakness. They are characterized by an impaired synthesis or regeneration of contractile protein.
Jyoti Deshpande   +2 more
doaj   +1 more source

Cytokines and chemokines as regulators of skeletal muscle inflammation: presenting the case of Duchenne muscular dystrophy [PDF]

open access: yes, 2013
Duchenne muscular dystrophy is a severe inherited muscle disease that affects 1 in 3500 boys worldwide. Infiltration of skeletal muscle by inflammatory cells is an important facet of disease pathophysiology and is strongly associated with disease ...
De Bleecker, Jan, De Paepe, Boel
core   +3 more sources

Emerging Gene Correction Strategies for Muscular Dystrophies: Scientific Progress and Regulatory Impact [PDF]

open access: yes, 2016
Muscular dystrophies comprise a heterogeneous cluster of inherited muscle degenerative disorders with the common feature of progressive muscle weakness. These represent good candidates for treatment with gene-based therapies.
Bachtarzi, Houria, Farries, Tim
core   +1 more source

Hereditary muscular dystrophies

open access: yesБюллетень сибирской медицины, 2009
Precise diagnostic of hereditary muscular diseases begins to change during recent years due to genetic achievements. Genetic defects discoveries typical for different clinical variants of muscular dystrophies give opportunity for creation of specific ...
V. B. Doronin, O. B. Doronina
doaj   +1 more source

Expanding the phenotypic variability of MORC2 gene mutations: From Charcot‐Marie‐Tooth disease to late‐onset pure motor neuropathy

open access: yesHuman Mutation, Volume 43, Issue 12, Page 1898-1908, December 2022., 2022
Expanding the phenotypic variability of MORC2 gene mutations: From Charcot‐Marie‐Tooth disease to late‐onset pure motor neuropathy Abstract MORC2 gene encodes a ubiquitously expressed nuclear protein involved in chromatin remodeling, DNA repair, and transcriptional regulation. Heterozygous mutations in MORC2 gene have been associated with a spectrum of
Arnaud Jacquier   +9 more
wiley   +1 more source

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